Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

Citrin deficiency (CD) is a Mendelian disease due to biallelic mutations of SLC25A13 gene. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major pediatric CD phenotype, and its definite diagnosis relies on SLC25A13 genetic analysis. China is a vast country with a huge po...

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Detalles Bibliográficos
Autores principales: Lin, Wei-Xia, Zeng, Han-Shi, Zhang, Zhan-Hui, Mao, Man, Zheng, Qi-Qi, Zhao, Shu-Tao, Cheng, Ying, Chen, Feng-Ping, Wen, Wang-Rong, Song, Yuan-Zong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942605/
https://www.ncbi.nlm.nih.gov/pubmed/27405544
http://dx.doi.org/10.1038/srep29732

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942605/
https://www.ncbi.nlm.nih.gov/pubmed/27405544
http://dx.doi.org/10.1038/srep29732

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